Paroxysmal Dyskinesia
Breed: Irish Soft Coated Wheaten Terrier
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
General
Disease Name
Paroxysmal Dyskinesia
OMIA
2084
Gene Name
PIGN
Mutation
c.398C>T
Test Type
Genetic Disease/Disorder
Details
Paroxysmal Dyskinesia can sometimes appear to be simmilar to epilepsy. This is due to symptoms including seizure-type movement, full collapse, muscle spasms (though remaining fully conscious and responsive), or relatively mild wobbling and shaking. Frequency, as well as severity/duration of episodes, can vary considerably. Once the episode is over the dog reverts back to normal almost immediately. No apparent signs of disease between episodes, and dogs don't normally suffer a loss of bladder/bowel control after an episode. Age of onset ranges from 2 months to 5 years.
Details 2
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals... Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. (Richter et al, 2015)
Published
Kolicheski, A.L., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Kinoshita, T., Murakami, Y., O'Brien, D.P. : A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia. Neurogenetics :, 2016. Pubmed reference: 27891564. DOI: 10.1007/s10048-016-0502-4.
Published 2
Stassen, Q.E.M., Koskinen, L.L.E., van Steenbeek, F.G., Seppälä, E.H., Jokinen, T.S., Prins, P.G.M., Bok, H.G.J., Zandvliet, M.M.J.M., Vos-Loohuis, M., Leegwater, P.A.J., Lohi, H. : Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations. J Vet Intern Med 31:1123-1131, 2017. Pubmed reference: 28703446. DOI: 10.1111/jvim.14731.
Published 3
Richter A, Hamann M, Wissel J, Volk HA. Dystonia and Paroxysmal Dyskinesias: Under-Recognized Movement Disorders in Domestic Animals? A Comparison with Human Dystonia/Paroxysmal Dyskinesias. Frontiers in Veterinary Science. 2015;2:65. doi:10.3389/fvets.2015.00065.
Body/System/Process
Neurologic
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Soft Coated Wheaten Terrier
HSP Test-Specific Data
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
University of Missouri
GTP
GTP Name
University of Missouri
Breed
OMIA
Gene Name
PIGN
FCI Number
40